Linked Data
gnomAD v4:
20-46010343-A-AAAAAAAAAAAAAATTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010343_46010344insAAAAAAAAAAAAATTGT , CM000682.2:g.46010343_46010344insAAAAAAAAAAAAATTGT | GRCh38 |
| NC_000020.10:g.44638982_44638983insAAAAAAAAAAAAATTGT , CM000682.1:g.44638982_44638983insAAAAAAAAAAAAATTGT | GRCh37 |
| NC_000020.9:g.44072389_44072390insAAAAAAAAAAAAATTGT | NCBI36 |
| NG_011468.1:g.6436_6437insAAAAAAAAAAAAATTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.372-140_372-139insAAAAAAAAAAAAATTGT MANE Select | ENSP00000361405.3:n.372-140_372-139insAAAAAAAAAAAAATTGT | |
| NM_004994.2:c.372-140_372-139insAAAAAAAAAAAAATTGT | NP_004985.2:n.372-140_372-139insAAAAAAAAAAAAATTGT | |
| NM_004994.3:c.372-140_372-139insAAAAAAAAAAAAATTGT MANE Select | NP_004985.2:n.372-140_372-139insAAAAAAAAAAAAATTGT |